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- Table of Contents
Facts about Merlin.
May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating action.
Human | |
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Gene Name: | NF2 |
Uniprot: | P35240 |
Entrez: | 4771 |
Belongs to: |
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No superfamily |
ACN; BANF; Merlin; moesin-ezrin-radixin like; Moesin-ezrin-radixin-like protein; moesin-ezrin-radizin-like protein; neurofibromin 2 (bilateral acoustic neuroma); neurofibromin 2 (merlin); neurofibromin-2; NF2; SCH; Schwannomerlin; Schwannomin
Mass (kDA):
69.69 kDA
Human | |
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Location: | 22q12.2 |
Sequence: | 22; NC_000022.11 (29603556..29698600) |
Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.
[Isoform 1]: Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Binds with DCAF1 in the nucleus. The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation. The unphosphorylated form accumulates predomi
This article will address the role of NF2 genes in cancer. It also discusses how NF2 mutants can affect children as well as adults. You will find the best uses for the NF2 gene. Let's start with childhood. This genetic trait can be found in many children. It is important for you to know that the mutated form of this genetic trait is more common among people with biracial ancestry.
BiSNE was used to find gene pairs with localized expression. On top of each pair of plots was the gene's name, with dCAl for dorsal CAl, vCAl for ventral CAl, and sub for subiculum. Map3kl5 didn't show up in biSNE for lack of 2-D embedding expression patterns.
The NF2 protein acts as a tumor suppressor. This study sheds light on the poorly understood interface between the proliferative state and the cytoskeleton, which must be rearranged during cell division, transformation, and invasion. The potential drug target is also the NF2 product gene. The study's limitations must not be overlooked when considering the potential of this gene to be a therapeutic target.
The prevalence of NF2 is based on published studies that show a 1:25,000 to a 1:60,000 chance of developing it. The Wishart type, however, is more aggressive and diagnosed in the second decade of life. A family history of the disease cannot be used to predict the severity of the condition. Despite the risk, this mutation can be passed on by the parent with the NF2 genes.
Multiple types have been linked to NF2 mutations. In mice, the loss of this gene is a common cause of multiple types of tumors. Metastasis is highly possible after NF2 gene loss. Therefore, it is crucial to understand the mechanisms of how NF2 loss contributes to tumor progression. Patients must be treated with targeted therapies to reduce tumor growth and spread in order to make the most of the mutation.
Researchers analyzed 37 people using the NF2 gene. Seventeen of these individuals had NF2 variants. In addition, 30 of these individuals underwent targeted next-generation sequencing of their genomes. These targeted genomes provided a wide range in phenotypic outcomes. These findings contribute to the growing body knowledge on gene-phenotype interactions. This type gene will likely lead in the future to better therapies.
The study data shows that NF2 mutations are associated with a higher incidence of schwannomas and meningiomas. The same is true for schwannomas as meningiomas. Meningiomas also have a higher rate of NF2 mutagenesis than schwannomas. The researchers found that patients suffering from NF2 disease are more likely to have these mutations if they are between 16 and 24 years old.
Neurofibromin-2 (NF2) is a gene involved in the development and progression of tumors. It's also known by the names schwannomin, merlin. Merlin is a moesin-ezrin-radixin-like protein that is expressed in a variety of tumors, including gliomas and prostate cancer. A detailed understanding of how NF2 mutations activate will help us to better understand NF2 and its role as determining prognosis, response and treatment.
Low-expression cancers could harbor NF2 mutants, which block the expression of Merlin. The development of breast cancer is linked to NF2 mutations. The expression of Merlin at high levels in tumors is associated both with decreased cancer cell proliferation and metastasis. Further research is needed in order to understand the mechanism.
MiR-92a, a tumor-specific miRNA, inhibits caspase-3/7 activity. This miRNA target expression was used to clone NF2-3’UTR. In HCT116 cells, the miR-92a construct was found to be endogenous. In vitro, the RLUs of firefly-cells was reduced when the miR92a construct was overexpressed.
Exogenous miR-222a causes major alterations in actin cytoskeletal structure and makes cells motile. MiR92a direct targeting of NF2-3'UTR indicates that miR92a directly targets cancer suppressor function. This miR also regulates cytoskeleton actin. Also, miR92a promotes macropinocytosis. It also alters epithelial-growth factor receptor trafficking.
NF2 siRNA knockdown in human cancer cells also inhibits the proapoptotic activities of Merlin. E-cadherin, Ncadherin, vimentin and other genes are also affected by Merlin knockdown. In HCT116 and A549 cells, knockdown of NF2 siRNA resulted in gross morphological changes, including spindle-like morphology and cytoskeletal organization.
In a study of mouse models with an NF2 mutation, researchers used a double Cd44-knockout model to study the interactions of CD44 and Merlin in vivo. To impair Merlin function, researchers deleted exon 2-corresponding the FERMdomain from the Nf2 genetic gene. This mimicked NF2 mutations seen in human cancer. Furthermore, heterozygy Nf2D2/+ mice were used as a model for spontaneous tumor development. Histochemistry and computed radiography were used for the identification of tumors.
NF2 results from mutations in the merlin gene, chromosome 22q12.1. Merlin is a protein similar to exrin-readixin-moesin (ERM) proteins, which regulate cell shape, adhesion, and signaling pathways. It is also a tumor suppressor. Children who have mutations in this gene are at high risk for developing brain or spinal cord tumors.
The NF2-associated version of vestibular Syndrome usually manifests at an early stage. The disease's characteristic appearance is atypical and multilobulated. NF2-plaques are well-circumscribed, slightly raised, and have excessive hair. These lesions are typically less than 2 cm in diameter and usually appear in the face, hands, or feet of the youngest age group.
Bilateral Vestibular Schwannoma and Spinal-cord Schwannoma may occur in children who have NF2 mutations. The disorder can be caused by a spontaneous mutation, or by a single mutation in the gene. Because the disease is autosomal dominant, a child with NF2 mutations will be at risk of tumor formation in all three areas of the body.
A child with NF2 should be evaluated during their initial evaluation. The diagnosis should include tests that confirm the diagnosis and rule any other conditions that may be related to NF2. Questions regarding neurological symptoms such as seizures, focal neurologic signs, and other conditions should be asked in the child’s medical history. To assess auditory and visual function, the doctor will also do eye and hearing testing. Children with NF2 might have sensory, motor and/or visual deficits depending on where they are located.
Children with NF2 gene mutations can also be carriers if they inherit the genes from a affected parent. Researchers are working to discover the genetic basis of this mutation. The NF2 genetic is involved in several aspects fetal development and may be passed on to future kids. The condition can lead to developmental problems on the left or right side, including the spine and the brain. Ring chromosome 22 and sporadic VS may also be possible in people with NF2.
PMID: 8453669 by Trofatter J.A., et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
PMID: 8379998 by Rouleau G.A., et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.